ClinVar Miner

Variants from Kariminejad - Najmabadi Pathology & Genetics Center

Location: Iran, Islamic Republic of  Primary collection method: clinical testing
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Gene type:
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If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic likely pathogenic uncertain significance likely benign benign total
284 364 36 0 0 684

Gene and significance breakdown #

Total genes and gene combinations: 374
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Gene or gene combination pathogenic likely pathogenic uncertain significance total
CAPN3 16 12 0 28
DMD 15 7 0 22
DYSF 8 7 0 15
LAMA2 5 7 0 12
NF1 8 1 0 9
MYO7A 4 4 0 8
RYR1 3 5 0 8
SGCA 4 4 0 8
ATM, C11orf65 5 2 0 7
LMNA 2 4 1 7
SPG11 5 2 0 7
TYR 4 3 0 7
ATM 5 1 0 6
CEP290 6 0 0 6
COLQ 2 4 0 6
GMPPB 2 4 0 6
MYO15A 2 4 0 6
USH2A 5 1 0 6
C17orf107, CHRNE 2 3 0 5
COL6A2 3 1 1 5
GDAP1 1 3 1 5
PLA2G6 2 3 0 5
TGM1 2 3 0 5
ASPM 4 0 0 4
BBS12 0 3 1 4
CLCN1 1 3 0 4
COL7A1 2 2 0 4
PLEC 0 4 0 4
POLG, POLGARF 4 0 0 4
SACS 1 3 0 4
ABCA4 1 2 0 3
ACADVL 0 3 0 3
ANO5 1 2 0 3
CDC14A 1 2 0 3
CDH23 0 3 0 3
CLN6 1 2 0 3
COL1A1 1 2 0 3
COL6A1 3 0 0 3
DOK7 1 1 1 3
ETFDH 1 2 0 3
FHL1 0 2 1 3
FKRP 0 3 0 3
GJB1 2 1 0 3
GJB2 3 0 0 3
GNPTAB 2 1 0 3
IGHMBP2 2 1 0 3
KCNQ1 3 0 0 3
MECP2 3 0 0 3
MMUT 2 1 0 3
NALCN 1 2 0 3
PKHD1 3 0 0 3
PNKP 2 1 0 3
SH3TC2 0 3 0 3
SLC26A4 1 2 0 3
SRD5A3 2 1 0 3
SYNE1 1 2 0 3
TCAP 1 2 0 3
TPP1 3 0 0 3
TRAPPC9 2 1 0 3
VPS13B 1 2 0 3
WWOX 0 3 0 3
ZFYVE26 0 3 0 3
ALS2 0 2 0 2
AP4E1 0 1 1 2
ASAH1 0 2 0 2
BAG3 1 1 0 2
BBS9 1 1 0 2
BSCL2, HNRNPUL2-BSCL2 1 1 0 2
CACNA1A 1 0 1 2
CACNA1S 1 1 0 2
CDK10 1 1 0 2
CERS3 0 2 0 2
CHRNE 0 2 0 2
COL1A2 0 2 0 2
COL6A3 0 2 0 2
DNM2 1 0 1 2
DYNC1H1 1 1 0 2
EIF2B2 0 2 0 2
ERCC8 0 2 0 2
FANCA 1 1 0 2
GALNS 0 2 0 2
GCDH 1 1 0 2
GJC2 0 2 0 2
GNAO1 2 0 0 2
HINT1 1 1 0 2
KCNJ10 0 1 1 2
LAMB3 1 1 0 2
MFN2 1 1 0 2
MME 0 2 0 2
MPZ 0 2 0 2
NEFL 1 1 0 2
NGLY1 0 1 1 2
NPC1 1 1 0 2
OTOF 1 1 0 2
PIEZO2 1 0 1 2
POMT1 2 0 0 2
PRX 1 1 0 2
PTEN 1 1 0 2
PTPN11 1 1 0 2
PTPRQ 0 2 0 2
RPE65 1 1 0 2
SELENON 1 1 0 2
SGCB 1 1 0 2
SGCD 1 1 0 2
SLC12A6 0 1 1 2
SMCHD1 2 0 0 2
SOD1 1 1 0 2
TBC1D24 0 2 0 2
TBCK 2 0 0 2
TMPRSS3 0 2 0 2
TTN 0 1 1 2
AAAS 0 1 0 1
ABCA12 0 1 0 1
ABCD1 0 1 0 1
ACE 0 1 0 1
ACTA1 0 1 0 1
ADA 0 1 0 1
ADGRG1 0 1 0 1
ADGRV1 0 1 0 1
AGL 1 0 0 1
AGRN 1 0 0 1
AGXT 0 1 0 1
AIFM1, RAB33A 0 1 0 1
AIPL1 0 1 0 1
ALDH18A1 0 1 0 1
ALDH7A1 0 1 0 1
ALMS1 1 0 0 1
AMPD2 1 0 0 1
ANK3 0 1 0 1
ANKRD11 0 1 0 1
ANO10 1 0 0 1
AP3B1 0 0 1 1
AP4B1 1 0 0 1
AP4M1 1 0 0 1
ARHGEF10 0 1 0 1
ARID1B 0 0 1 1
ARL6 0 1 0 1
ARSA 1 0 0 1
ARV1 0 1 0 1
ASPA, SPATA22 0 1 0 1
ATL1 0 1 0 1
ATP2B3 0 0 1 1
ATP6V1B1 0 1 0 1
ATP7B 0 1 0 1
ATRX 0 1 0 1
BBS1, ZDHHC24 0 1 0 1
BBS2 0 1 0 1
BBS7 1 0 0 1
BCKDHB 1 0 0 1
BMP1, LOC129999976 0 1 0 1
C10orf105, CDH23 0 1 0 1
C19orf12 0 1 0 1
CAMK2B 1 0 0 1
CANT1 0 1 0 1
CASK 0 1 0 1
CAV3, OXTR 0 1 0 1
CBS 0 1 0 1
CC2D2A 0 1 0 1
CDKL5 0 1 0 1
CEACAM16 0 1 0 1
CEP290, RLIG1 0 1 0 1
CEP55 0 1 0 1
CERT1, POLK 0 0 1 1
CFAP96, UFSP2 0 1 0 1
CFTR 1 0 0 1
CHAT 0 1 0 1
CHMP1A 0 0 1 1
CHRNE, LOC130060041 1 0 0 1
CHRNG 1 0 0 1
CLCN7 0 1 0 1
CLN5 1 0 0 1
CNGA3 1 0 0 1
COL11A2 1 0 0 1
COL17A1 0 1 0 1
COL2A1 0 1 0 1
COMP 1 0 0 1
COQ4 0 1 0 1
COQ8A 0 1 0 1
CPT2 1 0 0 1
CRB1 0 1 0 1
CRBN 0 1 0 1
CREBBP 1 0 0 1
CRYAA 1 0 0 1
CTNNB1 0 1 0 1
CTSA 0 1 0 1
CTSK 0 1 0 1
CYB5R3 0 0 1 1
CYP2U1 0 1 0 1
DCX 1 0 0 1
DES 0 1 0 1
DNA2 0 0 1 1
DNAJB6 1 0 0 1
DNMT3A 0 1 0 1
DPAGT1 0 1 0 1
DSG1 0 1 0 1
DYM 0 1 0 1
EPM2A 0 1 0 1
ERCC4 0 1 0 1
ERLIN2 0 1 0 1
ESPN 0 0 1 1
ETHE1 0 1 0 1
EXOSC2 0 0 1 1
EXOSC3 1 0 0 1
EXT1 0 1 0 1
EYS 1 0 0 1
FANCG 0 1 0 1
FBLN5 0 0 1 1
FBN1 0 1 0 1
FBN1, LOC126862124 0 1 0 1
FBN2 0 0 1 1
FERMT1 0 1 0 1
FGD4 0 0 1 1
FGFR3 1 0 0 1
FKBP10 1 0 0 1
FLNB 0 1 0 1
FLNC 1 0 0 1
FOXG1 1 0 0 1
FREM1 0 1 0 1
FUCA1 1 0 0 1
FYCO1 0 1 0 1
GAA 0 1 0 1
GALC 1 0 0 1
GAMT 1 0 0 1
GAN 0 1 0 1
GAREM2, HADHA 0 1 0 1
GCH1 0 1 0 1
GFPT1 1 0 0 1
GH-LCR, SCN4A 0 1 0 1
GIPC3 0 0 1 1
GLI3 1 0 0 1
GNB5 0 1 0 1
GPHN, RDH12, ZFYVE26 0 1 0 1
HACE1 0 1 0 1
HADHA 0 1 0 1
HARS1 0 1 0 1
HECW2 0 1 0 1
HJV 0 1 0 1
HPS6 0 1 0 1
HSD17B4 0 1 0 1
ITGA7 0 1 0 1
ITGB4 0 1 0 1
ITPR1 0 1 0 1
KAT6B 1 0 0 1
KIF1C, LOC126862473 1 0 0 1
KIF5A 0 0 1 1
KISS1R 0 1 0 1
KMT2D 1 0 0 1
KRT14 1 0 0 1
KRT17 1 0 0 1
L2HGDH 0 1 0 1
LAMC2 0 1 0 1
LHFPL5 0 1 0 1
LOC111811965, MIR4733HG, NF1 1 0 0 1
LOC126861615, PAH 1 0 0 1
LOC126861897, MHRT, MYH7 0 1 0 1
LOC129992585, SGCB 0 1 0 1
LOC130005097, PNPLA2 0 1 0 1
LOC130059891, SERPINF1 0 1 0 1
LRAT 1 0 0 1
LRP4 0 1 0 1
MARVELD2 1 0 0 1
MCOLN1 0 1 0 1
MCPH1 0 1 0 1
MFSD8 0 1 0 1
MICU1 1 0 0 1
MITF 1 0 0 1
MKKS 0 1 0 1
MLC1 1 0 0 1
MMACHC 1 0 0 1
MOCS2 0 1 0 1
MTHFR 1 0 0 1
MYBPC1 0 1 0 1
MYH14 0 0 1 1
MYH2, MYHAS 0 0 1 1
MYO6 0 1 0 1
NAGLU 0 1 0 1
NBN 0 1 0 1
NCSTN 1 0 0 1
NEB, RIF1 1 0 0 1
NTNG2 0 1 0 1
OPHN1 0 1 0 1
PAH 1 0 0 1
PCCB 1 0 0 1
PCDH15 0 1 0 1
PDE6B 0 1 0 1
PDE6C 0 1 0 1
PDHA1 1 0 0 1
PDZD7 0 1 0 1
PEX1 1 0 0 1
PEX2 0 1 0 1
PEX5 0 1 0 1
PEX7 0 1 0 1
PGM1 0 1 0 1
PIGG 0 1 0 1
PIGN 0 0 1 1
PJVK 1 0 0 1
PKDCC 0 1 0 1
PMP2 0 1 0 1
PNPLA1 0 1 0 1
PNPLA2 0 1 0 1
PNPLA8 0 1 0 1
POMGNT1 1 0 0 1
POMGNT1, TSPAN1 0 1 0 1
POU3F4 0 1 0 1
PPOX 0 1 0 1
PPT1 0 1 0 1
PRG4 0 1 0 1
PSEN1 1 0 0 1
PURA 0 1 0 1
PYCR1 1 0 0 1
PYGM 0 1 0 1
RAB3GAP2 0 1 0 1
RAG2 0 1 0 1
RAPSN 0 1 0 1
RBM10 0 1 0 1
RD3 1 0 0 1
REEP1 0 0 1 1
RLBP1 0 1 0 1
RMND1 0 1 0 1
RNASEH2B 1 0 0 1
RNASEH2C 1 0 0 1
RPGRIP1L 1 0 0 1
RPS24 0 1 0 1
RTEL1, RTEL1-TNFRSF6B 1 0 0 1
SERPINI1 0 1 0 1
SETBP1 1 0 0 1
SETX 1 0 0 1
SGCG 1 0 0 1
SGSH 1 0 0 1
SLC12A1 1 0 0 1
SLC19A2 1 0 0 1
SLC22A5 0 1 0 1
SLC29A3 0 1 0 1
SMC1A 0 1 0 1
SMPD1 0 1 0 1
SORD 0 1 0 1
SPAST 1 0 0 1
SPG7 0 0 1 1
SPTA1 0 1 0 1
SRCAP 0 1 0 1
SRD5A2 0 1 0 1
SYT2 0 0 1 1
SZT2 0 0 1 1
TANGO2 1 0 0 1
TBCEL-TECTA, TECTA 0 1 0 1
TBX4 1 0 0 1
TCIRG1 0 1 0 1
TK2 0 1 0 1
TMC1 1 0 0 1
TMEM216 0 1 0 1
TMEM67 1 0 0 1
TMEM94 0 1 0 1
TMIE 0 1 0 1
TMPRSS6 0 1 0 1
TMX2, TMX2-CTNND1 0 1 0 1
TPRN 0 1 0 1
TRMT10A 0 1 0 1
TSC2 1 0 0 1
TSEN54 1 0 0 1
TTPA 0 1 0 1
TUBA1A 0 1 0 1
TUBB4A 1 0 0 1
TULP1 1 0 0 1
TUSC3 0 1 0 1
VLDLR 1 0 0 1
VPS13A 0 1 0 1
VRK1 1 0 0 1
VWF 1 0 0 1
WAS 0 1 0 1
WDR62 1 0 0 1
WDR73 0 1 0 1
ZEB2 1 0 0 1
ZFR 0 0 1 1
ZIC2 1 0 0 1

Condition and significance breakdown #

Total conditions: 53
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance total
Abnormality of the musculature 86 102 0 188
Abnormality of the nervous system 62 71 0 133
Ear malformation 23 31 0 54
Abnormality of the skin 21 20 0 41
Abnormal central motor function 21 18 0 39
Abnormality of metabolism/homeostasis 16 22 0 38
not provided 8 27 1 36
Peripheral neuropathy 12 20 1 33
Abnormality of the eye 10 11 0 21
Abnormality of the skeletal system 4 16 0 20
Abnormality of prenatal development or birth 6 4 0 10
Abnormality of blood and blood-forming tissues 3 6 0 9
Abnormality of the genitourinary system 3 3 0 6
Neurodevelopmental delay 0 1 5 6
Abnormality of connective tissue 1 2 0 3
Cerebellar ataxia 2 0 1 3
Peripheral axonal neuropathy 0 1 2 3
Sensorineural hearing loss disorder 1 0 2 3
Abnormality of the mitochondrion 2 0 0 2
Congenital disorder of deglycosylation 0 1 1 2
Congenital myopathy 0 0 2 2
Intellectual disability 0 0 2 2
Rod-cone dystrophy 0 2 0 2
Abnormality of the cardiovascular system 1 0 0 1
Agenesis of the corpus callosum with peripheral neuropathy 0 0 1 1
Bardet-Biedl syndrome 0 0 1 1
Blepharophimosis - intellectual disability syndrome, SBBYS type 1 0 0 1
Charcot-Marie-Tooth disease 0 0 1 1
Charcot-Marie-Tooth disease axonal type 2K 0 0 1 1
Charcot-Marie-Tooth disease dominant intermediate B 0 0 1 1
Charcot-Marie-Tooth disease type 2B1 0 0 1 1
Charcot-Marie-Tooth disease type 4C 0 1 0 1
Charcot-Marie-Tooth disease type 4H 0 0 1 1
Congenital contractural arachnodactyly 0 0 1 1
Congenital muscular dystrophy 0 0 1 1
Congenital myasthenic syndrome 0 0 1 1
Demyelinating peripheral neuropathy 0 0 1 1
Hereditary spastic paraplegia 0 0 1 1
Hypotonia 1 0 0 1
Juvenile hemochromatosis 0 1 0 1
Microcephaly; Spastic paraparesis; Neurodevelopmental abnormality 0 0 1 1
Mitochondrial trifunctional protein deficiency 0 1 0 1
Mitochondrial trifunctional protein deficiency; Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency 0 1 0 1
Muscle weakness 0 0 1 1
Muscular dystrophy 0 0 1 1
Myopathy 0 0 1 1
Neonatal hypotonia 0 0 1 1
Night blindness 1 0 0 1
Occipital encephalocele 1 0 0 1
Polyneuropathy 0 0 1 1
Psychomotor retardation 0 1 0 1
Seizure 0 1 0 1
not specified 0 0 1 1

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